PRPF8 - Gene browser

PRPF8

pre-mRNA processing factor 8

HCNC Approved Symbol: PRPF8 (HGNC:17340)
Genomic Coordinates: 17:1,650,629 - 1,684,867 (17p13.3)
Synonyms: PRPC8, Prp8, hPrp8, SNRNP220, RP13
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the PRPF8 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

017
Patient count

Decreased visual acuity: 7 (41.2%)
Patient Count: 7 (41.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (41.2%)
Night blindness: 7 (41.2%)
Patient Count: 7 (41.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (41.2%)
Retinitis pigmentosa: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Intellectual disability: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Rod-cone dystrophy: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)